FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mevalonic aciduria ID (Ontology) DOID:0050452 (Human Disease)
Definition A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.
Also Known As "Mevalonate Kinase Deficiency"
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 Genes
 mevalonic aciduria       1
 for disease ribbon | mevalonic aciduria       1
 model of | mevalonic aciduria       1
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__peroxisomal disease
       |__mevalonic aciduria  1 rec.
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Is a peroxisomal disease
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Synonyms
  • "Mevalonate Kinase Deficiency" EXACT
Secondary IDs
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GARD:3588
ICD10CM:M04.1
MESH:D054078
MIM:610377
NCI:C84890
ORDO:29
SNOMEDCT_US_2023_03_01:124327008
SNOMEDCT_US_2023_03_01:234538002
UMLS_CUI:C0342731
UMLS_CUI:C0398691
UMLS_CUI:C1959626